Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort

OBJECTIVE: To evaluate the role of genetic variation at the DMPK locus on symptomatic diversity in 250 adult, ambulant patients with myotonic dystrophy type 1 (DM1) recruited to the Observational Prolonged Trial in Myotonic Dystrophy Type 1 to Improve Quality of Life—Standards, a Target Identificati...

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Detalles Bibliográficos
Autores principales: Cumming, Sarah A., Jimenez-Moreno, Cecilia, Okkersen, Kees, Wenninger, Stephan, Daidj, Ferroudja, Hogarth, Fiona, Littleford, Roberta, Gorman, Gráinne, Bassez, Guillaume, Schoser, Benedikt, Lochmüller, Hanns, van Engelen, Baziel G.M., Monckton, Darren G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745735/
https://www.ncbi.nlm.nih.gov/pubmed/31395669
http://dx.doi.org/10.1212/WNL.0000000000008056

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745735/
https://www.ncbi.nlm.nih.gov/pubmed/31395669
http://dx.doi.org/10.1212/WNL.0000000000008056

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